Linked Data
ClinVar Variation Id:
354006
ClinVar RCV Id:
RCV000396154
dbSNP Id:
rs4647157
gnomAD v2:
5-60169923-G-T
gnomAD v3:
5-60874096-G-T
gnomAD v4:
5-60874096-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.60874096G>T , CM000667.2:g.60874096G>T | GRCh38 |
| NC_000005.9:g.60169923G>T , CM000667.1:g.60169923G>T | GRCh37 |
| NC_000005.8:g.60205680G>T | NCBI36 |
| NG_009289.1:g.75983C>A , LRG_466:g.75983C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000439176.6:c.*519C>A | ENSP00000408344.2:n.*519C>A | |
| ENST00000647431.2:c.1811C>A | ENSP00000494726.2:n.1811C>A | |
| ENST00000675042.2:c.*519C>A | ENSP00000502082.2:n.*519C>A | |
| ENST00000675452.2:c.*1675C>A | ENSP00000506954.1:n.*1675C>A | |
| ENST00000682217.1:c.*519C>A | ENSP00000507570.1:n.*519C>A | |
| ENST00000682375.1:c.*1540C>A | ENSP00000507551.1:n.*1540C>A | |
| ENST00000683052.1:c.1512C>A | ENSP00000507072.1:n.1512C>A | |
| ENST00000683216.1:n.5347C>A | ||
| ENST00000683460.1:c.*3147C>A | ENSP00000507820.1:n.*3147C>A | |
| ENST00000265038.10:c.*519C>A | ENSP00000265038.6:n.*519C>A | |
| ENST00000643034.1:c.*1602C>A | ENSP00000496080.1:n.*1602C>A | |
| ENST00000643708.1:c.*1540C>A | ENSP00000494199.1:n.*1540C>A | |
| ENST00000647431.1:c.1762C>A | ||
| ENST00000675378.1:c.*711C>A | ENSP00000502535.1:n.*711C>A | |
| ENST00000675452.1:n.1959C>A | ||
| ENST00000676185.1:c.*519C>A MANE Select | ENSP00000501614.1:n.*519C>A | |
| ENST00000265038.9:c.*519C>A | ENSP00000265038.5:n.*519C>A | |
| ENST00000381118.7:c.*1754C>A | ENSP00000370510.3:n.*1754C>A | |
| ENST00000462279.5:n.3162C>A | ||
| NM_000082.3:c.*519C>A , LRG_466t1:c.*519C>A | NP_000073.1:n.*519C>A | |
| NM_001007233.2:c.*519C>A | NP_001007234.1:n.*519C>A | |
| NM_001290285.1:c.*519C>A | NP_001277214.1:n.*519C>A | |
| NM_000082.4:c.*519C>A MANE Select | NP_000073.1:n.*519C>A | |
| NM_001007233.3:c.*519C>A | NP_001007234.1:n.*519C>A | |
| NM_001290285.2:c.*519C>A | NP_001277214.1:n.*519C>A |